Disease #06635 (SEMDDR (?Spondyloepimetaphyseal dysplasia, Di Rocco type), OMIM:617974)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Official abbreviation	SEMDDR
Name	?Spondyloepimetaphyseal dysplasia, Di Rocco type
OMIM ID	617974
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	UFSP2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	N/A

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